Characterization and long-term follow-up of children with brugada syndrome: experience from a tertiary paediatric referral centre

Introduction Brugada syndrome (BrS) is an autosomal dominant channelopathy, which typically presents in young adults. It can also be diagnosed in children, but data in this age group is scarce. Purpose To describe the clinical features, management and long-term follow-up of children with BrS history followed-up in a tertiary paediatric referral centre. Methods Single centre retrospective study of consecutive patients with history of BrS, defined as having a BrS positive phenotype (BrS(+)), or a negative phenotype-positive genotype (BrS(−)). They were all followed up in a paediatric heart rhythm clinic. Clinical and demographical data were collected and analysed according to the phenotype. Results 30 patients were included, with a median age at diagnosis of 7 years (IQR 1–13) and a mean follow-up time of 7±3 years. Sixteen patients were BrS(+), predominantly male (n=13, 81%). 88% (n=14) performed a genetic test, which was positive in 57% (n=8); the most frequent mutation was SCN5A (n=5). Family history of BrS was present in 56% (n=9) and almost one third had family history of sudden cardiac death (SCD). Most of the patients had a type 1 Brugada ECG pattern (n=14) and 2 patients presented a fever and drug induced pattern, respectively. Fourteen patients were BrS(−), mostly female (n=11, 79%) with a loss-of-function mutation in the SCN5A gene (n=10). They all had family members with BrS, mainly from the paternal side, and 43% (n=6) mentioned SCD history. Although most of the patients were asymptomatic, the prevalence of rhythm or conduction disturbances was not infrequent, particularly in BrS(+) patients (n=12, 75%). Also, in this group and during follow-up, 3 patients had documented supraventricular tachyarrhythmias, and 2 patients had syncope episodes, one of which required an implantable cardioverter-defibrillator. No events were reported in the BrS(−) patients. Nine patients (n=9/30, 30%) were hospitalized, 3 due to an arrhythmic event (all in the BrS(+) group). Overall, no sudden cardiac death event was reported during follow-up. Conclusion In our study, although the majority of the patients were asymptomatic, the occurrence of arrhythmic events was not negligible, especially in the BrS(+) patients. Despite the significant family history, patients with BrS(−) had no events reported during follow-up. Nevertheless, the management of these patients is not clear cut, and a personalized therapeutic strategy with close follow-up is essential. Funding Acknowledgement Type of funding sources: None.